{"id":"W2172078705","doi":"10.1210/jc.2004-0280","title":"A Single-Base Mutation in the Peroxisome Proliferator-Activated Receptor γ4 Promoter Associated with Altered<i>in Vitro</i>Expression and Partial Lipodystrophy","year":2004,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":73,"is_retracted":false,"has_abstract":true,"ca_institutions":"Robarts Clinical Trials; Western University","funders":"Robarts Research Institute; Canadian Institutes of Health Research; Heart and Stroke Foundation of Canada","keywords":"Peroxisome proliferator-activated receptor gamma; LMNA; Biology; Mutation; Lipodystrophy; Exon; Peroxisome proliferator-activated receptor; Molecular biology; Gene isoform; Coding region; Genetics; Receptor; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007523148,0.0001469436,0.000346432,0.00006208581,0.00006361845,0.00001995854,0.0001881082,0.0001601008,0.00000640901],"category_scores_gemma":[0.0004942659,0.00007510725,0.00008349623,0.0001209321,0.0002087015,0.00001940175,0.00003780728,0.0006027462,0.000001106421],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001262249,"about_ca_system_score_gemma":0.00008531208,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001215372,"about_ca_topic_score_gemma":0.00001553073,"domain_scores_codex":[0.9979467,0.0008176235,0.0006380852,0.0001801081,0.0001722624,0.0002451676],"domain_scores_gemma":[0.9990923,0.0001077695,0.0004542515,0.0001872221,0.000103816,0.00005460588],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.004186171,0.0003276478,0.0007283138,0.000003813116,0.00007828545,0.00003498699,0.0003454646,0.0001268395,0.9901666,0.00003446215,0.00005595418,0.003911484],"study_design_scores_gemma":[0.01214625,0.003373326,0.04939344,0.00009207097,0.0001916865,0.000703673,0.0004096878,0.00002283072,0.9264724,0.0005165208,0.006430563,0.0002475748],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970368,0.0005041724,0.0001128463,0.001807879,0.0003026091,0.0002088925,0.00000391116,0.000004146233,0.0000187067],"genre_scores_gemma":[0.9979771,0.000175616,0.0003564622,0.0007551105,0.0006938829,0.000006011663,0.0000114248,0.00001534709,0.000009002888],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0636942,"threshold_uncertainty_score":0.3062785,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02176841215576108,"score_gpt":0.2840224984380858,"score_spread":0.2622540862823247,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}